Canonical Allele Identifier: CA367139707

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30603062G>A , CM000669.2:g.30603062G>A	GRCh38
NC_000007.13:g.30642678G>A , CM000669.1:g.30642678G>A	GRCh37
NC_000007.12:g.30609203G>A	NCBI36
NG_007942.1:g.13498G>A , LRG_243:g.13498G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.598G>A MANE Select	NP_002038.2:p.Asp200Asn
ENST00000389266.8:c.598G>A MANE Select	ENSP00000373918.3:p.Asp200Asn
NM_001316772.1:c.436G>A	NP_001303701.1:p.Asp146Asn
NM_002047.2:c.598G>A , LRG_243t1:c.598G>A	NP_002038.2:p.Asp200Asn
NM_002047.3:c.598G>A	NP_002038.2:p.Asp200Asn
ENST00000389266.7:c.598G>A	ENSP00000373918.3:p.Asp200Asn
ENST00000444666.6:c.598G>A	ENSP00000415447.2:p.Asp200Asn
ENST00000454308.5:c.*468G>A	ENSP00000392677.1:n.*468G>A
ENST00000454308.6:c.598G>A	ENSP00000392677.2:p.Asp200Asn
ENST00000470392.2:n.688G>A
ENST00000478124.5:n.636G>A
ENST00000478124.6:n.661G>A
ENST00000485784.2:n.677G>A
ENST00000674616.1:c.*312G>A	ENSP00000502408.1:n.*312G>A
ENST00000674643.1:c.598G>A	ENSP00000501636.1:p.Asp200Asn
ENST00000674734.1:n.721G>A
ENST00000674737.1:c.598G>A	ENSP00000502464.1:p.Asp200Asn
ENST00000674807.1:c.598G>A	ENSP00000502814.1:p.Asp200Asn
ENST00000674815.1:c.229G>A	ENSP00000502799.1:p.Asp77Asn
ENST00000674851.1:c.229G>A	ENSP00000502451.1:p.Asp77Asn
ENST00000674969.1:n.2471G>A
ENST00000675025.1:n.514G>A
ENST00000675051.1:c.397G>A	ENSP00000502296.1:p.Asp133Asn
ENST00000675529.1:c.*468G>A	ENSP00000501655.1:n.*468G>A
ENST00000675587.1:n.614G>A
ENST00000675651.1:c.598G>A	ENSP00000502513.1:p.Asp200Asn
ENST00000675693.1:c.430G>A	ENSP00000502174.1:p.Asp144Asn
ENST00000675810.1:c.496G>A	ENSP00000502743.1:p.Asp166Asn
ENST00000675859.1:c.598G>A	ENSP00000502033.1:p.Asp200Asn
ENST00000675863.1:n.606G>A
ENST00000675886.1:n.626G>A
ENST00000676088.1:c.*468G>A	ENSP00000501884.1:n.*468G>A
ENST00000676140.1:c.598G>A	ENSP00000502571.1:p.Asp200Asn
ENST00000676164.1:c.*49G>A	ENSP00000501986.1:n.*49G>A
ENST00000676210.1:c.598G>A	ENSP00000502373.1:p.Asp200Asn
ENST00000676259.1:c.*30G>A	ENSP00000501980.1:n.*30G>A
ENST00000676403.1:c.598G>A	ENSP00000502681.1:p.Asp200Asn
XM_006715686.1:c.229G>A	XP_006715749.1:p.Asp77Asn
XM_006715686.2:c.229G>A	XP_006715749.1:p.Asp77Asn